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Molecular Vision|November 18, 2006
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian originVanita Vanita, Hans Christian Hennies, Daljit Singh, et al.
Journal of the National Cancer Institute|December 13, 2007
Cancer risk of heterozygotes with the NBN founder mutationEva Seemanová, Petr Jarolim, Pavel Seeman, et al.
Molecular Vision|December 15, 2007
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian originVanita Vanita, Jai Rup Singh, Daljit Singh, et al.
Cancer Reports (Hoboken, N.J.)|February 22, 2023
The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestationKrystyna H Chrzanowska, Eva Seemanova, Raymonda Varon, et al.
Cytogenetic and Genome Research|March 5, 2026
Familial Robertsonian Translocation, rob(14;21), with high risk for Down syndromeAnna Rajab, Heidemarie Neitzel, Jenny Jalali, et al.
American Journal of Human Genetics|May 23, 2002
Intracytoplasmic sperm injection may increase the risk of imprinting defectsGerald F Cox, Joachim Bürger, Va Lip, et al.
Carcinogenesis|July 15, 2006
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS proteinLars Krüger, Ilja Demuth, Heidemarie Neitzel, et al.
Molecular Vision|June 1, 2006
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian familyVanita Vanita, Jai Rup Singh, James Fielding Hejtmancik, et al.
European Journal of Cell Biology|November 6, 2007
Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patientsNadja Thierfelder, Ilja Demuth, Nadine Burghardt, et al.
Carcinogenesis|July 16, 2002
Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemiaMartin Digweed, Susanne Rothe, Ilja Demuth, et al.
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